ClinVar Miner

Submissions for variant NM_172071.4(RC3H1):c.71C>T (p.Thr24Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003883427 SCV004697864 uncertain significance Hemophagocytic lymphohistiocytosis, familial, 6 2024-02-20 criteria provided, single submitter clinical testing Criteria applied: PM2_SUP,PM3_SUP,PP2,PP3

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